Tlr6 - SNV Details



 Gene Information 
Gene Name Tlr6
Gene Description toll-like receptor 6 [Source:MGI Symbol;Acc:MGI:1341296]
MGI phenotype Inactivation of this gene results in abnormal macrophage function.
Uniprot Name
CCDS Name
Gene GO
T-helper 1 type immune response; Toll-like receptor 2-Toll-like receptor 6 protein complex; integral to membrane; signal transduction; detection of diacyl bacterial lipopeptide; transmembrane signaling receptor activity; immune response; lipopeptide binding; positive regulation of JUN kinase activity; intracellular; protein binding; cellular response to diacyl bacterial lipopeptide; inflammatory response; positive regulation of interleukin-12 biosynthetic process; positive regulation of I-kappaB kinase/NF-kappaB cascade; positive regulation of interleukin-6 biosynthetic process; diacyl lipopeptide binding; innate immune response; phagocytic vesicle membrane; protein heterodimerization activity
Homolog in other species TLR6
Omim http://omim.org/entry/605403
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000051498
Chromosome 5
Coordinate 64,954,676     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 68
Allele Frequency
T:R0.49
C:V0.52
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL00963
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0.89
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved